ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.2926-14C>T

gnomAD frequency: 0.00001  dbSNP: rs886060843
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000298321 SCV000458993 uncertain significance Capillary malformation-arteriovenous malformation 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350994 SCV000458994 uncertain significance Parkes Weber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058543 SCV002416544 likely benign Capillary malformation-arteriovenous malformation syndrome 2024-04-16 criteria provided, single submitter clinical testing

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