ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys)

gnomAD frequency: 0.00002  dbSNP: rs758475317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508210 SCV000603168 uncertain significance not specified 2016-08-25 criteria provided, single submitter clinical testing
Invitae RCV003444561 SCV004516598 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-05-01 criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003444561 SCV004171666 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2023-11-24 no assertion criteria provided clinical testing

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