ClinVar Miner

Submissions for variant NM_000504.4(F10):c.61G>A (p.Gly21Arg)

dbSNP: rs753790195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002284169 SCV002573749 pathogenic not provided 2022-01-14 criteria provided, single submitter clinical testing PM1, PM2, PS3, PS4_moderate
GeneDx RCV002284169 SCV005689889 pathogenic not provided 2024-08-07 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on secretion (PMID: 1939653); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 1939653, 20331754, 26891460, 35059555, 18403394, 30507709, 37647632)
OMIM RCV000012838 SCV000033078 pathogenic Factor X deficiency 1993-03-15 no assertion criteria provided literature only

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