ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)

gnomAD frequency: 0.00002  dbSNP: rs782364202
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792466 SCV000931767 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000792466 SCV002783988 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2021-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437428 SCV004165925 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ATP7A: BP4
Natera, Inc. RCV001830686 SCV002089110 uncertain significance Menkes kinky-hair syndrome 2020-11-05 no assertion criteria provided clinical testing

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