ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4015-7C>G

dbSNP: rs761783451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586253 SCV005077064 likely benign not specified 2025-04-28 criteria provided, single submitter clinical testing Variant summary: NOTCH1 c.4015-7C>G alters a nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. To our knowledge, no occurrence of c.4015-7C>G in individuals affected with Adams-Oliver Syndrome 5 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 3251809). Based on the evidence outlined above, the variant was classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV005101995 SCV005811395 likely benign Adams-Oliver syndrome 5 2024-02-23 criteria provided, single submitter clinical testing

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