ClinVar Miner

Submissions for variant NM_004752.4(GCM2):c.307C>T (p.Pro103Ser)

dbSNP: rs1561672362
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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 RCV002493293 SCV002776808 uncertain significance Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2 2021-07-15 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722321 SCV000853452 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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