ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4156G>A (p.Gly1386Arg)

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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 RCV002599296 SCV003496710 benign Hajdu-Cheney syndrome 2023-09-09 criteria provided, single submitter clinical testing

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