ClinVar Miner

Submissions for variant NM_020754.4(ARHGAP31):c.4096G>A (p.Val1366Met)

gnomAD frequency: 0.00031  dbSNP: rs3796360
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000349585 SCV000337953 benign not specified 2015-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000899220 SCV001043474 benign not provided 2024-10-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259769 SCV002539442 benign Adams-Oliver syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000899220 SCV005302949 benign not provided criteria provided, single submitter not provided

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