ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1334C>T (p.Thr445Met)

gnomAD frequency: 0.00001  dbSNP: rs752919688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002280308 SCV002568338 uncertain significance not provided 2022-05-06 criteria provided, single submitter clinical testing PP2
Labcorp Genetics (formerly Invitae), Labcorp RCV005096015 SCV005827334 likely benign Adams-Oliver syndrome 5 2025-01-21 criteria provided, single submitter clinical testing

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