ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.3078+16G>T

gnomAD frequency: 0.00001  dbSNP: rs760800240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334197 SCV001526977 uncertain significance Acromesomelic dysplasia 1, Maroteaux type 2018-07-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002070180 SCV002393349 likely benign Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 2022-09-19 criteria provided, single submitter clinical testing

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