ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4197G>A (p.Glu1399=)

gnomAD frequency: 0.00005  dbSNP: rs370837898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001488871 SCV001693397 likely benign Pitt-Hopkins-like syndrome 2 2022-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000896949 SCV001786196 uncertain significance not provided 2021-10-19 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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