ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5279A>G (p.Asp1760Gly)

dbSNP: rs1596463935
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812036 SCV000952335 likely benign Developmental and epileptic encephalopathy 94 2019-03-22 criteria provided, single submitter clinical testing

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