ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1157C>T (p.Ser386Phe)

gnomAD frequency: 0.00001  dbSNP: rs773041897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002240545 SCV001232967 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-07-10 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV003483773 SCV004228925 not provided Ehlers-Danlos syndrome, classic type no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-25-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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