ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.*9G>A

gnomAD frequency: 0.00001  dbSNP: rs886060845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000368389 SCV000458997 uncertain significance Parkes Weber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271038 SCV000458998 uncertain significance Capillary malformation-arteriovenous malformation 1 2016-06-14 criteria provided, single submitter clinical testing

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