ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.1207G>A (p.Asp403Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003314197 SCV004013349 likely pathogenic Hypothyroidism due to TSH receptor mutations 2023-06-29 criteria provided, single submitter clinical testing PS3, PM2, PP3

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