ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile)

gnomAD frequency: 0.00001  dbSNP: rs1022510242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464193 SCV000548938 likely benign Adams-Oliver syndrome 5 2023-08-10 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660176 SCV000782170 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing

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