ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)

gnomAD frequency: 0.00003  dbSNP: rs267599127
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002228170 SCV000936064 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-11-14 criteria provided, single submitter clinical testing
GeneDx RCV001553305 SCV001774153 uncertain significance not provided 2023-10-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002504981 SCV002815405 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2021-11-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001553305 SCV004225961 uncertain significance not provided 2023-04-05 criteria provided, single submitter clinical testing BS1

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