ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2222C>T (p.Pro741Leu)

gnomAD frequency: 0.00001  dbSNP: rs1422097890
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002233228 SCV000819427 benign Ehlers-Danlos syndrome, classic type, 1 2022-09-01 criteria provided, single submitter clinical testing

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