ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.97G>C (p.Val33Leu)

dbSNP: rs2077548355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001559247 SCV001781402 uncertain significance Menkes kinky-hair syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559248 SCV001781403 uncertain significance Cutis laxa, X-linked 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559249 SCV001781404 uncertain significance X-linked distal spinal muscular atrophy type 3 2021-07-14 criteria provided, single submitter clinical testing

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