ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.1611G>A (p.Ala537=)

gnomAD frequency: 0.00498  dbSNP: rs150183570
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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 RCV000252614 SCV000310719 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000973603 SCV001121370 benign not provided 2024-11-08 criteria provided, single submitter clinical testing
GeneDx RCV000973603 SCV001790709 likely benign not provided 2021-02-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253319 SCV002524553 benign Focal segmental glomerulosclerosis 1 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294153 SCV002587403 benign Focal segmental glomerulosclerosis 2020-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002253319 SCV002811871 benign Focal segmental glomerulosclerosis 1 2021-07-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000973603 SCV005208308 likely benign not provided criteria provided, single submitter not provided

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