ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.2501A>G (p.His834Arg)

gnomAD frequency: 0.00364  dbSNP: rs142973221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880833 SCV001023955 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000880833 SCV004159410 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing ARHGEF10: BP4, BS1

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