ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.4945G>C (p.Val1649Leu)

gnomAD frequency: 0.00036  dbSNP: rs201268655
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000909619 SCV001054434 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000909619 SCV004130648 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing ARID2: BS2
ITMI RCV000120085 SCV000084222 not provided not specified 2013-09-19 no assertion provided reference population

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