ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=)

gnomAD frequency: 0.00081  dbSNP: rs141346023
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951753 SCV001098182 benign not provided 2020-12-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001130 SCV001158271 benign not specified 2019-03-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001001130 SCV001476288 benign not specified 2020-04-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000951753 SCV002035287 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000951753 SCV002036278 likely benign not provided no assertion criteria provided clinical testing

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