ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.82+12C>T

dbSNP: rs763484836
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335577 SCV001528752 uncertain significance Hermansky-Pudlak syndrome 9 2018-01-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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