ClinVar Miner

Submissions for variant NM_020754.4(ARHGAP31):c.1700C>T (p.Pro567Leu)

gnomAD frequency: 0.01996  dbSNP: rs61744178
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893281 SCV001037203 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000893281 SCV001836329 benign not provided 2018-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259916 SCV002539433 benign Adams-Oliver syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000893281 SCV005302935 benign not provided criteria provided, single submitter not provided

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