ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr)

gnomAD frequency: 0.00002  dbSNP: rs200839338
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002234466 SCV000755993 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002060725 SCV002496622 benign not provided 2022-04-01 criteria provided, single submitter clinical testing COL5A2: BS1, BS2

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