ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2013G>A (p.Pro671=)

gnomAD frequency: 0.00004  dbSNP: rs775697727
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000560283 SCV000612315 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082433 SCV000652511 likely benign Developmental and epileptic encephalopathy, 36 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000560283 SCV000718608 likely benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001082433 SCV002524922 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001082433 SCV002796657 likely benign Developmental and epileptic encephalopathy, 36 2021-09-07 criteria provided, single submitter clinical testing

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