ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.45G>A (p.Pro15=)

gnomAD frequency: 0.00014  dbSNP: rs77226826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000939971 SCV001085827 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001148076 SCV001308939 likely benign Pontocerebellar hypoplasia type 2D 2017-04-27 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Natera, Inc. RCV001148076 SCV001461169 likely benign Pontocerebellar hypoplasia type 2D 2020-04-24 no assertion criteria provided clinical testing

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