ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.52+17C>T

dbSNP: rs2135264969
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002132720 SCV002439640 likely benign Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2024-10-13 criteria provided, single submitter clinical testing

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