ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.34+2T>C (rs1057517498)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409881 SCV000487607 likely pathogenic Meckel syndrome type 2 2016-05-19 criteria provided, single submitter clinical testing
Counsyl RCV000411402 SCV000487608 likely pathogenic Joubert syndrome 2 2016-05-19 criteria provided, single submitter clinical testing

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