ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.924+18G>C

dbSNP: rs760534857
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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 RCV003736503 SCV004565264 likely benign not provided 2023-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005101432 SCV005796298 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-31 criteria provided, single submitter clinical testing

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