ClinVar Miner

Submissions for variant NM_001555.5(IGSF1):c.668-8G>A

gnomAD frequency: 0.00322  dbSNP: rs181264169
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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 RCV000908365 SCV001053121 benign not provided 2018-03-29 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002272378 SCV002556843 likely benign Hypothyroidism due to TSH receptor mutations 2020-05-08 criteria provided, single submitter clinical testing

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