ClinVar Miner

Submissions for variant NM_198252.3(GSN):c.1416+16C>T

gnomAD frequency: 0.00233  dbSNP: rs116723395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002129502 SCV002408088 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494264 SCV002800357 likely benign Finnish type amyloidosis 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002129502 SCV005225503 likely benign not provided criteria provided, single submitter not provided

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