ClinVar Miner

Submissions for variant NM_004752.4(GCM2):c.60C>A (p.Ser20Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV002293383 SCV002586272 uncertain significance Hypoparathyroidism, familial isolated, 2 2022-08-06 criteria provided, single submitter clinical testing The variant c.60C>A (p.Ser20Arg) in the GCM2 gene has not been reported in dbSNP, gnomAD, 1000 Genomes Project or ClinVar. The nucleotide position is weakly conserved across 35 mammalian species (GERP RS: 0.33). In silico analysis gives inconsistent results.

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