ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6802G>A (p.Glu2268Lys)

gnomAD frequency: 0.00006  dbSNP: rs996150018
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518125 SCV000614330 uncertain significance not specified 2017-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091193 SCV005735908 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing

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