ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.1806C>T (p.His602=)

gnomAD frequency: 0.00004  dbSNP: rs749089376
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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 RCV002181044 SCV002479243 likely benign not provided 2022-06-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500384 SCV002804525 likely benign Focal segmental glomerulosclerosis 1 2022-03-21 criteria provided, single submitter clinical testing

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