ClinVar Miner

Submissions for variant NM_014285.7(EXOSC2):c.803T>G (p.Ile268Ser)

dbSNP: rs1831267496
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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 RCV001334763 SCV001527696 uncertain significance Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 2018-04-18 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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