ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.321-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Changsha Kingmed Center For Clinical Laboratory, KingMed Diagnostics RCV003154308 SCV003842174 likely pathogenic Neonatal encephalopathy 2022-07-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475536 SCV004210794 likely pathogenic Pili torti-deafness syndrome 2023-09-05 criteria provided, single submitter clinical testing

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