ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.978G>A (p.Gln326=)

gnomAD frequency: 0.00275  dbSNP: rs117392350
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246295 SCV000310735 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971678 SCV001119336 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000971678 SCV001142910 benign not provided 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000971678 SCV002015576 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253331 SCV002524543 benign Focal segmental glomerulosclerosis 1 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294162 SCV002587217 benign Kidney disorder 2019-10-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000971678 SCV005208305 likely benign not provided criteria provided, single submitter not provided

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