ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6265C>A (p.Pro2089Thr)

dbSNP: rs139920321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001500996 SCV001705800 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563334 SCV003754564 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.6265C>A (p.P2089T) alteration is located in exon 75 (coding exon 75) of the COL7A1 gene. This alteration results from a C to A substitution at nucleotide position 6265, causing the proline (P) at amino acid position 2089 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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