ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.583C>T (p.Leu195=) (rs923508164)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437787 SCV000526246 likely benign not specified 2016-04-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000898686 SCV001042908 likely benign Pitt-Hopkins-like syndrome 2 2019-12-31 criteria provided, single submitter clinical testing

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