ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr)

gnomAD frequency: 0.00002  dbSNP: rs749697867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002241291 SCV001393969 benign Ehlers-Danlos syndrome, classic type, 1 2023-07-29 criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV002241291 SCV004171579 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2023-11-24 no assertion criteria provided clinical testing

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