ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.398-16C>T

gnomAD frequency: 0.05415  dbSNP: rs2287728
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248084 SCV000310730 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512313 SCV001719705 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001512313 SCV001872204 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253328 SCV002524531 benign Focal segmental glomerulosclerosis 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001512313 SCV005310912 benign not provided criteria provided, single submitter not provided

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