ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.1808C>T (p.Ala603Val)

gnomAD frequency: 0.00100  dbSNP: rs144928351
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000923618 SCV001069103 likely benign not provided 2018-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492415 SCV002799912 likely benign Coffin-Siris syndrome 6 2021-09-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000923618 SCV005216698 likely benign not provided criteria provided, single submitter not provided
ITMI RCV000120073 SCV000084210 not provided not specified 2013-09-19 no assertion provided reference population

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