ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2464A>G (p.Thr822Ala)

gnomAD frequency: 0.00001  dbSNP: rs1245057191
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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 RCV002017724 SCV002306446 likely benign Adams-Oliver syndrome 5 2023-04-06 criteria provided, single submitter clinical testing

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