ClinVar Miner

Submissions for variant NM_001365480.1(CCDC88A):c.5086G>A (p.Val1696Ile) (rs140794014)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect-Association for Creatine Deficiencies RCV001009548 SCV001169644 not provided PEHO syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-05-2017 by GTR ID 1006. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect facilitates ClinVar submission from the Association for Creatine Deficiencies registry and does not attempt to reinterpret the variant.

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