ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1944C>T (p.Leu648=)

gnomAD frequency: 0.00001  dbSNP: rs199554662
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000927122 SCV001072698 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000927122 SCV001983369 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502824 SCV002811972 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2022-04-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832095 SCV002076405 likely benign Alport syndrome 2021-01-21 no assertion criteria provided clinical testing

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