ClinVar Miner

Submissions for variant NM_004752.4(GCM2):c.1060A>G (p.Met354Val)

gnomAD frequency: 0.01190  dbSNP: rs61734278
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287456 SCV000459568 likely benign Familial hypoparathyroidism 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000881294 SCV001024452 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502369 SCV002805013 likely benign Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2 2021-07-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000881294 SCV005222782 likely benign not provided criteria provided, single submitter not provided

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