ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)

gnomAD frequency: 0.00061  dbSNP: rs143221297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001463112 SCV001667045 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537815 SCV003587787 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.6596C>T (p.P2199L) alteration is located in exon 82 (coding exon 82) of the COL7A1 gene. This alteration results from a C to T substitution at nucleotide position 6596, causing the proline (P) at amino acid position 2199 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001278934 SCV001465980 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-08-16 no assertion criteria provided clinical testing

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