ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg)

gnomAD frequency: 0.00023  dbSNP: rs141956294
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000871542 SCV001013219 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Mendelics RCV000990177 SCV001141025 uncertain significance Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288890 SCV001476289 benign not specified 2020-05-11 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000871542 SCV001799812 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000871542 SCV001968717 likely benign not provided no assertion criteria provided clinical testing

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