ClinVar Miner

Submissions for variant NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=)

gnomAD frequency: 0.00113  dbSNP: rs200813566
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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) RCV000272325 SCV000336174 benign not specified 2015-10-26 criteria provided, single submitter clinical testing
Invitae RCV000901379 SCV001045746 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259767 SCV002539426 benign Adams-Oliver syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000901379 SCV004011479 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ARHGAP31: BP4, BP7, BS1

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