ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.247G>A (p.Ala83Thr)

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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 RCV005081953 SCV005724316 benign Adams-Oliver syndrome 5 2024-10-16 criteria provided, single submitter clinical testing

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