ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.315C>A (p.Ser105=)

gnomAD frequency: 0.00001  dbSNP: rs11541787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001456478 SCV001660260 likely benign Amyloidosis, hereditary systemic 1 2022-12-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232338 SCV005878463 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing

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