ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)

gnomAD frequency: 0.00007  dbSNP: rs148291967
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324723 SCV001515688 benign not provided 2024-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537758 SCV003734173 uncertain significance Inborn genetic diseases 2022-12-06 criteria provided, single submitter clinical testing The c.3112C>T (p.P1038S) alteration is located in exon 23 (coding exon 23) of the COL7A1 gene. This alteration results from a C to T substitution at nucleotide position 3112, causing the proline (P) at amino acid position 1038 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277648 SCV001464612 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-21 no assertion criteria provided clinical testing

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