ClinVar Miner

Submissions for variant NM_000516.5:c.(?_-424)_(257_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001269333 SCV001448278 pathogenic Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types 2020-10-04 criteria provided, single submitter clinical testing

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