ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp)

gnomAD frequency: 0.00009  dbSNP: rs138319290
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003738036 SCV004554209 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280170 SCV001467329 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-05 no assertion criteria provided clinical testing

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