ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1370-17C>A

dbSNP: rs369350196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002088215 SCV002374533 likely benign not provided 2023-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507941 SCV002800637 likely benign Autosomal recessive Alport syndrome; Benign familial hematuria 2022-02-09 criteria provided, single submitter clinical testing

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