ClinVar Miner

Submissions for variant NM_004752.4(GCM2):c.187G>A (p.Gly63Ser)

gnomAD frequency: 0.00003  dbSNP: rs104893960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496283 SCV002811095 likely pathogenic Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2 2021-07-09 criteria provided, single submitter clinical testing
OMIM RCV000006465 SCV000026648 pathogenic Hypoparathyroidism, familial isolated, 2 2005-05-01 no assertion criteria provided literature only

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