ClinVar Miner

Submissions for variant NM_020754.4(ARHGAP31):c.384G>C (p.Leu128=)

gnomAD frequency: 0.00503  dbSNP: rs150339878
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893532 SCV001037474 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000893532 SCV001759482 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259909 SCV002539417 benign Adams-Oliver syndrome 1 2021-12-05 criteria provided, single submitter clinical testing

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