ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.553A>G (p.Met185Val)

gnomAD frequency: 0.00257  dbSNP: rs34348416
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000675826 SCV000801548 uncertain significance not provided 2023-01-09 criteria provided, single submitter clinical testing BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV001082196 SCV001108793 likely benign Salla disease 2025-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001082196 SCV001326370 benign Salla disease 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001164257 SCV001326371 benign Sialic acid storage disease, severe infantile type 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV000675826 SCV005222205 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001082196 SCV001453703 benign Salla disease 2019-12-24 no assertion criteria provided clinical testing

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