ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.697-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV004595795 SCV005088493 pathogenic Pelizaeus-Merzbacher disease 2022-01-24 criteria provided, single submitter clinical testing This intronic variant (c.697-2A>C) has not been observed in population databases (gnomAD) and has not been described in the literature. Splice prediction programs indicate a deleterious effect on normal splicing.

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