ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1494G>A (p.Glu498=) (rs200197533)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000397814 SCV000458969 likely benign Capillary malformation-arteriovenous malformation 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289574 SCV000458970 likely benign Parkes Weber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000865658 SCV001006661 benign Capillary malformation-arteriovenous malformation 2019-12-31 criteria provided, single submitter clinical testing

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