ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.283G>C (p.Val95Leu)

gnomAD frequency: 0.00001  dbSNP: rs1200990468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507073 SCV000603207 uncertain significance not specified 2017-01-09 criteria provided, single submitter clinical testing
Invitae RCV001857262 SCV002287978 benign Ehlers-Danlos syndrome, classic type, 1 2022-08-09 criteria provided, single submitter clinical testing

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