ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5458_5459del (p.Phe1820fs)

dbSNP: rs1564191682
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755971 SCV000883660 pathogenic not provided 2017-06-05 criteria provided, single submitter clinical testing

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