ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1494C>T (p.Gly498=)

gnomAD frequency: 0.00001  dbSNP: rs142762020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001370 SCV001158568 likely benign not specified 2019-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002550750 SCV003258983 likely benign not provided 2022-05-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001001370 SCV005622210 benign not specified 2023-11-30 criteria provided, single submitter clinical testing

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