ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.1291+4C>T

gnomAD frequency: 0.00018  dbSNP: rs201704771
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002018392 SCV002299862 benign not provided 2024-04-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492370 SCV002796898 uncertain significance Focal segmental glomerulosclerosis 1 2022-05-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002018392 SCV005194589 uncertain significance not provided criteria provided, single submitter not provided

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