ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1059A>C (p.Ala353=) (rs200259338)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558951 SCV000651804 likely benign Pitt-Hopkins-like syndrome 2 2017-05-10 criteria provided, single submitter clinical testing

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